E-ISSN 1658-8223 | ISSN 1658-645X
 

Case Report
Online Published: 05 Feb 2018
 


A Novel Homozygous Deletion Mutation in Recombination Activating Gene 1 in Saudi Infant with atypical Omenn Syndrome

Mohammed A Al-Suhaibani.


Abstract
Omenn syndrome is a form of severe combined immunodeficiency associated with erythrodermia, hepatosplenomegaly, lymphadenopathy, diarrhoea, alopecia, and failure to thrive. The recombination activating enzymes RAG1 and RAG2 have a crucial role in both B and T cells development. The majority of mutations are missense mutations in recombination activating genes RAG1 and RAG2. We report a 4 months old Saudi girl with a novel homozygous deletion mutation in recombination activating gene 1.

Key words: Omenn Syndrome


 
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Pubmed Style

Mohammed A Al-Suhaibani. A Novel Homozygous Deletion Mutation in Recombination Activating Gene 1 in Saudi Infant with atypical Omenn Syndrome. Majmaah J Heal Sci. 2014; 2(2): 44-47.


Web Style

Mohammed A Al-Suhaibani. A Novel Homozygous Deletion Mutation in Recombination Activating Gene 1 in Saudi Infant with atypical Omenn Syndrome. https://www.mjhs-mu.org/?mno=290215 [Access: September 14, 2024].


AMA (American Medical Association) Style

Mohammed A Al-Suhaibani. A Novel Homozygous Deletion Mutation in Recombination Activating Gene 1 in Saudi Infant with atypical Omenn Syndrome. Majmaah J Heal Sci. 2014; 2(2): 44-47.



Vancouver/ICMJE Style

Mohammed A Al-Suhaibani. A Novel Homozygous Deletion Mutation in Recombination Activating Gene 1 in Saudi Infant with atypical Omenn Syndrome. Majmaah J Heal Sci. (2014), [cited September 14, 2024]; 2(2): 44-47.



Harvard Style

Mohammed A Al-Suhaibani (2014) A Novel Homozygous Deletion Mutation in Recombination Activating Gene 1 in Saudi Infant with atypical Omenn Syndrome. Majmaah J Heal Sci, 2 (2), 44-47.



Turabian Style

Mohammed A Al-Suhaibani. 2014. A Novel Homozygous Deletion Mutation in Recombination Activating Gene 1 in Saudi Infant with atypical Omenn Syndrome. Majmaah Journal of Health Sciences, 2 (2), 44-47.



Chicago Style

Mohammed A Al-Suhaibani. "A Novel Homozygous Deletion Mutation in Recombination Activating Gene 1 in Saudi Infant with atypical Omenn Syndrome." Majmaah Journal of Health Sciences 2 (2014), 44-47.



MLA (The Modern Language Association) Style

Mohammed A Al-Suhaibani. "A Novel Homozygous Deletion Mutation in Recombination Activating Gene 1 in Saudi Infant with atypical Omenn Syndrome." Majmaah Journal of Health Sciences 2.2 (2014), 44-47. Print.



APA (American Psychological Association) Style

Mohammed A Al-Suhaibani (2014) A Novel Homozygous Deletion Mutation in Recombination Activating Gene 1 in Saudi Infant with atypical Omenn Syndrome. Majmaah Journal of Health Sciences, 2 (2), 44-47.





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